Canonical Allele Identifier: CA126152
Gene: GLO1 HGNC NCBI
COSMIC:
COSM4417164 (not active)
MyVariant.info:
GRCh38 chr6:g.38682852T>G
GRCh37 chr6:g.38650628T>G
Revel Score:
ENST00000373365 (MANE Select) 0.053
gnomAD v2:
6:38650628 T / G
gnomAD v3:
6:38682852 T / G
gnomAD v4:
chr6-38682852-T-G
Joint Max Group AF 0.45300517 (NFE)
Genomes Max Group AF 0.44118205 (NFE)
Exomes Max Group AF 0.45351023 (NFE)
ClinVar RCV:
RCV000017412
ClinVar Variation:
16037
dbSNP:
4746
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38682852T>G , CM000668.2:g.38682852T>G GRCh38
NC_000006.11:g.38650628T>G , CM000668.1:g.38650628T>G GRCh37
NC_000006.10:g.38758606T>G NCBI36
NG_012074.1:g.25325A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.332A>C MANE Select ENSP00000362463.3:p.Glu111Ala
ENST00000373365.4:c.332A>C ENSP00000362463.3:p.Glu111Ala
ENST00000470973.1:n.364A>C
NM_006708.2:c.332A>C NP_006699.2:p.Glu111Ala
NM_006708.3:c.332A>C MANE Select NP_006699.2:p.Glu111Ala
Search 100 bp 5'
Search 100 bp 3'